Canonical Allele Identifier: CA360759421
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs199678757

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338077G>A , CM000667.2:g.128338077G>A GRCh38
NC_000005.9:g.127673769G>A , CM000667.1:g.127673769G>A GRCh37
NC_000005.8:g.127701668G>A NCBI36
NG_008750.1:g.204967C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.302C>T
ENST00000703785.1:n.383C>T
ENST00000262464.9:c.3518C>T MANE Select ENSP00000262464.4:p.Thr1173Ile
ENST00000262464.8:c.3518C>T ENSP00000262464.4:p.Thr1173Ile
ENST00000507835.5:c.68C>T ENSP00000426839.1:p.Thr23Ile
ENST00000508053.5:c.3518C>T ENSP00000424571.1:p.Thr1173Ile
ENST00000508989.5:c.3419C>T ENSP00000425596.1:p.Thr1140Ile
ENST00000619499.4:c.3515C>T ENSP00000482132.1:p.Thr1172Ile
NM_001999.3:c.3518C>T NP_001990.2:p.Thr1173Ile
XM_017009228.2:c.3365C>T XP_016864717.1:p.Thr1122Ile
NM_001999.4:c.3518C>T MANE Select NP_001990.2:p.Thr1173Ile